Allele Registry

Canonical Allele Identifier: PA2825333129

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV002017727

ClinVar Variation:

1509204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Arg150Pro	CA382894056 NM_001024382.2:c.449G>C